Varaico: Literature-Extracted Genetic Variants

Gene:PRB2
Variant:p.R171Q
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PRB2

NM_006248.4:p.R171Q

Associated Papers

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development.

Igarashi M et al.

Scientific Reports, 2020

33060765 (PubMed )
Supplement: 41598_2020_74405_MOESM1_ESM.pdf

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S1_HCC-1_coding_SNVs
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